Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.153819543T>CCA30710785GATAD2Bc.42+63A>G (n.42+63A>G)
c.465+63A>G (n.465+63A>G)
 dbSNP
1g.153819543T>GCA2648092259GATAD2Bc.42+63A>C (n.42+63A>C)
c.465+63A>C (n.465+63A>C)
 gnomAD v4
1g.153819543T=CA2480603168GATAD2Bc.42+63A= (n.42+63A=)
c.465+63A= (n.465+63A=)
1g.153819545G>TCA2574060243GATAD2Bc.42+61C>A (n.42+61C>A)
c.465+61C>A (n.465+61C>A)
 gnomAD v4
1g.153819547G>TCA2648092260GATAD2Bc.42+59C>A (n.42+59C>A)
c.465+59C>A (n.465+59C>A)
 gnomAD v4
1g.153819548G>ACA30710800GATAD2Bc.42+58C>T (n.42+58C>T)
c.465+58C>T (n.465+58C>T)
 dbSNP gnomAD v4
1g.153819548G=CA2480603169GATAD2Bc.42+58C= (n.42+58C=)
c.465+58C= (n.465+58C=)
1g.153819548G>TCA889542957GATAD2Bc.42+58C>A (n.42+58C>A)
c.465+58C>A (n.465+58C>A)
 dbSNP gnomAD v4
1g.153819550A>GCA2574060244GATAD2Bc.42+56T>C (n.42+56T>C)
c.465+56T>C (n.465+56T>C)
 gnomAD v4
1g.153819551T>CCA2480603171GATAD2Bc.42+55A>G (n.42+55A>G)
c.465+55A>G (n.465+55A>G)
 dbSNP
1g.153819551T=CA2480603170GATAD2Bc.42+55A= (n.42+55A=)
c.465+55A= (n.465+55A=)
1g.153819552T>GCA526369902GATAD2Bc.42+54A>C (n.42+54A>C)
c.465+54A>C (n.465+54A>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.153819552T=CA2480603173GATAD2Bc.42+54A= (n.42+54A=)
c.465+54A= (n.465+54A=)
1g.153819552_153819557delinsTAAATACA2480603172GATAD2Bc.42+49_42+54delinsTATTTA (n.42+49_42+54delinsTATTTA)
c.465+49_465+54delinsTATTTA (n.465+49_465+54delinsTATTTA)
1g.153819553A=CA2480603174GATAD2Bc.42+53T= (n.42+53T=)
c.465+53T= (n.465+53T=)
1g.153819553A>CCA2480603175GATAD2Bc.42+53T>G (n.42+53T>G)
c.465+53T>G (n.465+53T>G)
 dbSNP
1g.153819553A>TCA2648092261GATAD2Bc.42+53T>A (n.42+53T>A)
c.465+53T>A (n.465+53T>A)
 gnomAD v4
1g.153819558_153819562delCA889542966GATAD2Bc.42+49_42+53del (n.42+49_42+53del)
c.465+49_465+53del (n.465+49_465+53del)
 dbSNP gnomAD v3 gnomAD v4
1g.153819554A>CCA2648092262GATAD2Bc.42+52T>G (n.42+52T>G)
c.465+52T>G (n.465+52T>G)
 gnomAD v4
1g.153819554A>GCA2648092263GATAD2Bc.42+52T>C (n.42+52T>C)
c.465+52T>C (n.465+52T>C)
 gnomAD v4
1g.153819555A=CA2480603176GATAD2Bc.42+51T= (n.42+51T=)
c.465+51T= (n.465+51T=)
1g.153819555A>GCA1120853GATAD2Bc.42+51T>C (n.42+51T>C)
c.465+51T>C (n.465+51T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.153819557A=CA2480603177GATAD2Bc.42+49T= (n.42+49T=)
c.465+49T= (n.465+49T=)
1g.153819557A>CCA2648092264GATAD2Bc.42+49T>G (n.42+49T>G)
c.465+49T>G (n.465+49T>G)
 gnomAD v4
1g.153819557A>GCA889542968GATAD2Bc.42+49T>C (n.42+49T>C)
c.465+49T>C (n.465+49T>C)
 dbSNP
1g.153819558A>TCA2648092265GATAD2Bc.42+48T>A (n.42+48T>A)
c.465+48T>A (n.465+48T>A)
 gnomAD v4
1g.153819561T>CCA526369905GATAD2Bc.42+45A>G (n.42+45A>G)
c.465+45A>G (n.465+45A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.153819561T=CA2480603179GATAD2Bc.42+45A= (n.42+45A=)
c.465+45A= (n.465+45A=)
1g.153819561_153819565delinsTAGAACA2480603178GATAD2Bc.42+41_42+45delinsTTCTA (n.42+41_42+45delinsTTCTA)
c.465+41_465+45delinsTTCTA (n.465+41_465+45delinsTTCTA)
1g.153819562A>GCA2648092266GATAD2Bc.42+44T>C (n.42+44T>C)
c.465+44T>C (n.465+44T>C)
 gnomAD v4
1g.153819562_153819565delCA1120854GATAD2Bc.42+41_42+44del (n.42+41_42+44del)
c.465+41_465+44del (n.465+41_465+44del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.153819563G>ACA2648092267GATAD2Bc.42+43C>T (n.42+43C>T)
c.465+43C>T (n.465+43C>T)
 gnomAD v4
1g.153819563G>CCA2574060245GATAD2Bc.42+43C>G (n.42+43C>G)
c.465+43C>G (n.465+43C>G)
 gnomAD v4
1g.153819563G=CA2480603180GATAD2Bc.42+43C= (n.42+43C=)
c.465+43C= (n.465+43C=)
1g.153819563G>TCA526369906GATAD2Bc.42+43C>A (n.42+43C>A)
c.465+43C>A (n.465+43C>A)
 dbSNP gnomAD v2 gnomAD v4
1g.153819565_153819568delCA342534837GATAD2Bc.42+40_42+43del (n.42+40_42+43del)
c.465+40_465+43del (n.465+40_465+43del)
1g.153819564A>GCA2648092269GATAD2Bc.42+42T>C (n.42+42T>C)
c.465+42T>C (n.465+42T>C)
 gnomAD v4
1g.153819564A>TCA2648092270GATAD2Bc.42+42T>A (n.42+42T>A)
c.465+42T>A (n.465+42T>A)
 gnomAD v4
1g.153819565delCA2648092268GATAD2Bc.42+42del (n.42+42del)
c.465+42del (n.465+42del)
 gnomAD v4
1g.153819565A>CCA2648092271GATAD2Bc.42+41T>G (n.42+41T>G)
c.465+41T>G (n.465+41T>G)
 gnomAD v4
1g.153819565A>GCA2648092272GATAD2Bc.42+41T>C (n.42+41T>C)
c.465+41T>C (n.465+41T>C)
 gnomAD v4
1g.153819566G>ACA2648092273GATAD2Bc.42+40C>T (n.42+40C>T)
c.465+40C>T (n.465+40C>T)
 gnomAD v4
1g.153819566G>TCA2648092274GATAD2Bc.42+40C>A (n.42+40C>A)
c.465+40C>A (n.465+40C>A)
 gnomAD v4
1g.153819567G>ACA2648092275GATAD2Bc.42+39C>T (n.42+39C>T)
c.465+39C>T (n.465+39C>T)
 gnomAD v4
1g.153819567G>CCA2648092276GATAD2Bc.42+39C>G (n.42+39C>G)
c.465+39C>G (n.465+39C>G)
 gnomAD v4
1g.153819567G>TCA2648092277GATAD2Bc.42+39C>A (n.42+39C>A)
c.465+39C>A (n.465+39C>A)
 gnomAD v4
1g.153819568A>GCA2648092278GATAD2Bc.42+38T>C (n.42+38T>C)
c.465+38T>C (n.465+38T>C)
 gnomAD v4
1g.153819569G>ACA1120855GATAD2Bc.42+37C>T (n.42+37C>T)
c.465+37C>T (n.465+37C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.153819569G=CA2480603181GATAD2Bc.42+37C= (n.42+37C=)
c.465+37C= (n.465+37C=)
1g.153819569G>TCA2648092279GATAD2Bc.42+37C>A (n.42+37C>A)
c.465+37C>A (n.465+37C>A)
 gnomAD v4
1g.153819570C>ACA2648092280GATAD2Bc.42+36G>T (n.42+36G>T)
c.465+36G>T (n.465+36G>T)
 gnomAD v4
1g.153819570C>TCA2574060246GATAD2Bc.42+36G>A (n.42+36G>A)
c.465+36G>A (n.465+36G>A)
 dbSNP gnomAD v3 gnomAD v4
1g.153819571A=CA2480603182GATAD2Bc.42+35T= (n.42+35T=)
c.465+35T= (n.465+35T=)
1g.153819571A>GCA1120856GATAD2Bc.42+35T>C (n.42+35T>C)
c.465+35T>C (n.465+35T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.153819572T>CCA889542981GATAD2Bc.42+34A>G (n.42+34A>G)
c.465+34A>G (n.465+34A>G)
 dbSNP gnomAD v4
1g.153819572T=CA2480603183GATAD2Bc.42+34A= (n.42+34A=)
c.465+34A= (n.465+34A=)
1g.153819573A=CA1141343591GATAD2Bc.42+33T= (n.42+33T=)
c.465+33T= (n.465+33T=)
1g.153819573A>CCA1120857GATAD2Bc.42+33T>G (n.42+33T>G)
c.465+33T>G (n.465+33T>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.153819573A>GCA30710838GATAD2Bc.42+33T>C (n.42+33T>C)
c.465+33T>C (n.465+33T>C)
 dbSNP gnomAD v4
1g.153819574delCA2648092281GATAD2Bc.42+33del (n.42+33del)
c.465+33del (n.465+33del)
 gnomAD v4
1g.153819574_153819584delCA2574060247GATAD2Bc.42+23_42+33del (n.42+23_42+33del)
c.465+23_465+33del (n.465+23_465+33del)
1g.153819575C>ACA2648092282GATAD2Bc.42+31G>T (n.42+31G>T)
c.465+31G>T (n.465+31G>T)
 gnomAD v4
1g.153819575C=CA2480603185GATAD2Bc.42+31G= (n.42+31G=)
c.465+31G= (n.465+31G=)
1g.153819575C>GCA2480603186GATAD2Bc.42+31G>C (n.42+31G>C)
c.465+31G>C (n.465+31G>C)
 dbSNP gnomAD v4
1g.153819575C>TCA526369908GATAD2Bc.42+31G>A (n.42+31G>A)
c.465+31G>A (n.465+31G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.153819575_153819578delinsCAAGCA2480603184GATAD2Bc.42+28_42+31delinsCTTG (n.42+28_42+31delinsCTTG)
c.465+28_465+31delinsCTTG (n.465+28_465+31delinsCTTG)
1g.153819576A>GCA2648092283GATAD2Bc.42+30T>C (n.42+30T>C)
c.465+30T>C (n.465+30T>C)
 gnomAD v4
1g.153819576_153819583delinsAAGAAGAACA1145075521GATAD2Bc.42+23_42+30delinsTTCTTCTT (n.42+23_42+30delinsTTCTTCTT)
c.465+23_465+30delinsTTCTTCTT (n.465+23_465+30delinsTTCTTCTT)
1g.153819581_153819583delCA1120858GATAD2Bc.42+28_42+30del (n.42+28_42+30del)
c.465+28_465+30del (n.465+28_465+30del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.153819577A=CA2480603187GATAD2Bc.42+29T= (n.42+29T=)
c.465+29T= (n.465+29T=)
1g.153819577A>GCA30710857GATAD2Bc.42+29T>C (n.42+29T>C)
c.465+29T>C (n.465+29T>C)
 dbSNP gnomAD v4
1g.153819578G>ACA2574060248GATAD2Bc.42+28C>T (n.42+28C>T)
c.465+28C>T (n.465+28C>T)
 gnomAD v4
1g.153819578G>CCA2480603189GATAD2Bc.42+28C>G (n.42+28C>G)
c.465+28C>G (n.465+28C>G)
 dbSNP gnomAD v4
1g.153819578G=CA2480603188GATAD2Bc.42+28C= (n.42+28C=)
c.465+28C= (n.465+28C=)
1g.153819578G>TCA2648092284GATAD2Bc.42+28C>A (n.42+28C>A)
c.465+28C>A (n.465+28C>A)
 gnomAD v4
1g.153819578_153819582delinsGAAGACA2480603190GATAD2Bc.42+24_42+28delinsTCTTC (n.42+24_42+28delinsTCTTC)
c.465+24_465+28delinsTCTTC (n.465+24_465+28delinsTCTTC)
1g.153819579A>GCA2648092285GATAD2Bc.42+27T>C (n.42+27T>C)
c.465+27T>C (n.465+27T>C)
 gnomAD v4
1g.153819585_153819588delCA1120859GATAD2Bc.42+24_42+27del (n.42+24_42+27del)
c.465+24_465+27del (n.465+24_465+27del)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.153819580A=CA2480603191GATAD2Bc.42+26T= (n.42+26T=)
c.465+26T= (n.465+26T=)
1g.153819580A>CCA889542989GATAD2Bc.42+26T>G (n.42+26T>G)
c.465+26T>G (n.465+26T>G)
 dbSNP gnomAD v3 gnomAD v4
1g.153819580A>GCA2648092286GATAD2Bc.42+26T>C (n.42+26T>C)
c.465+26T>C (n.465+26T>C)
 gnomAD v4
1g.153819581G>ACA1120860GATAD2Bc.42+25C>T (n.42+25C>T)
c.465+25C>T (n.465+25C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.153819581G=CA2480603192GATAD2Bc.42+25C= (n.42+25C=)
c.465+25C= (n.465+25C=)
1g.153819581G>TCA2648092287GATAD2Bc.42+25C>A (n.42+25C>A)
c.465+25C>A (n.465+25C>A)
 gnomAD v4
1g.153819582A=CA2480603193GATAD2Bc.42+24T= (n.42+24T=)
c.465+24T= (n.465+24T=)
1g.153819582A>GCA2480603194GATAD2Bc.42+24T>C (n.42+24T>C)
c.465+24T>C (n.465+24T>C)
 dbSNP gnomAD v4
1g.153819583A=CA2480603195GATAD2Bc.42+23T= (n.42+23T=)
c.465+23T= (n.465+23T=)
1g.153819583A>CCA1120861GATAD2Bc.42+23T>G (n.42+23T>G)
c.465+23T>G (n.465+23T>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.153819584A>GCA2648092288GATAD2Bc.42+22T>C (n.42+22T>C)
c.465+22T>C (n.465+22T>C)
 gnomAD v4
1g.153819585G=CA2480603196GATAD2Bc.42+21C= (n.42+21C=)
c.465+21C= (n.465+21C=)
1g.153819585G>TCA1120862GATAD2Bc.42+21C>A (n.42+21C>A)
c.465+21C>A (n.465+21C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.153819586A=CA1144185727GATAD2Bc.42+20T= (n.42+20T=)
c.465+20T= (n.465+20T=)
1g.153819586A>CCA1120863GATAD2Bc.42+20T>G (n.42+20T>G)
c.465+20T>G (n.465+20T>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.153819586A>GCA2648092289GATAD2Bc.42+20T>C (n.42+20T>C)
c.465+20T>C (n.465+20T>C)
 gnomAD v4
1g.153819587A=CA2480603197GATAD2Bc.42+19T= (n.42+19T=)
c.465+19T= (n.465+19T=)
1g.153819587A>GCA526369922GATAD2Bc.42+19T>C (n.42+19T>C)
c.465+19T>C (n.465+19T>C)
 dbSNP gnomAD v2 gnomAD v4
1g.153819587A>TCA2574060249GATAD2Bc.42+19T>A (n.42+19T>A)
c.465+19T>A (n.465+19T>A)
1g.153819589_153819620delCA2739292041GATAD2Bc.30_42+19del
c.453_465+19del
1g.153819588A>GCA2648092290GATAD2Bc.42+18T>C (n.42+18T>C)
c.465+18T>C (n.465+18T>C)
 gnomAD v4
1g.153819589T>ACA2574060250GATAD2Bc.42+17A>T (n.42+17A>T)
c.465+17A>T (n.465+17A>T)
 gnomAD v4
1g.153819589T>CCA2648092291GATAD2Bc.42+17A>G (n.42+17A>G)
c.465+17A>G (n.465+17A>G)
 ClinVar gnomAD v4
1g.153819590T>ACA2574060251GATAD2Bc.42+16A>T (n.42+16A>T)
c.465+16A>T (n.465+16A>T)
 gnomAD v4
1g.153819590_153819594delinsTTTTCCA2480603198GATAD2Bc.42+12_42+16delinsGAAAA (n.42+12_42+16delinsGAAAA)
c.465+12_465+16delinsGAAAA (n.465+12_465+16delinsGAAAA)
1g.153819591T>CCA526369925GATAD2Bc.42+15A>G (n.42+15A>G)
c.465+15A>G (n.465+15A>G)
 dbSNP gnomAD v2 gnomAD v4
1g.153819591T=CA2480603199GATAD2Bc.42+15A= (n.42+15A=)
c.465+15A= (n.465+15A=)
1g.153819598_153819601delCA1120864GATAD2Bc.42+12_42+15del (n.42+12_42+15del)
c.465+12_465+15del (n.465+12_465+15del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.153819594_153819595delCA2697365248GATAD2Bc.42+12_42+13del (n.42+12_42+13del)
c.465+12_465+13del (n.465+12_465+13del)
 dbSNP
1g.153819594C>GCA2648092292GATAD2Bc.42+12G>C (n.42+12G>C)
c.465+12G>C (n.465+12G>C)
 gnomAD v4
1g.153819594C>TCA2648092293GATAD2Bc.42+12G>A (n.42+12G>A)
c.465+12G>A (n.465+12G>A)
 gnomAD v4
1g.153819594_153819596delinsCTTCA2480603200GATAD2Bc.42+10_42+12delinsAAG (n.42+10_42+12delinsAAG)
c.465+10_465+12delinsAAG (n.465+10_465+12delinsAAG)
1g.153819595T>CCA2648092294GATAD2Bc.42+11A>G (n.42+11A>G)
c.465+11A>G (n.465+11A>G)
 ClinVar gnomAD v4
1g.153819596_153819597delCA526369927GATAD2Bc.42+10_42+11del (n.42+10_42+11del)
c.465+10_465+11del (n.465+10_465+11del)
 dbSNP gnomAD v2 gnomAD v4
1g.153819596T>ACA2580061080GATAD2Bc.42+10A>T (n.42+10A>T)
c.465+10A>T (n.465+10A>T)
 ClinVar
1g.153819596T>CCA2648092295GATAD2Bc.42+10A>G (n.42+10A>G)
c.465+10A>G (n.465+10A>G)
 gnomAD v4
1g.153819597T>CCA2648092296GATAD2Bc.42+9A>G (n.42+9A>G)
c.465+9A>G (n.465+9A>G)
 gnomAD v4
1g.153819598C>TCA2648092297GATAD2Bc.42+8G>A (n.42+8G>A)
c.465+8G>A (n.465+8G>A)
 gnomAD v4
1g.153819603delCA2648092298GATAD2Bc.42+7del (n.42+7del)
c.465+7del (n.465+7del)
 gnomAD v4
1g.153819604A>CCA342534849GATAD2Bc.42+2T>G (n.42+2T>G)
c.465+2T>G (n.465+2T>G)
1g.153819604A>GCA342534850GATAD2Bc.42+2T>C (n.42+2T>C)
c.465+2T>C (n.465+2T>C)
1g.153819604A>TCA342534852GATAD2Bc.42+2T>A (n.42+2T>A)
c.465+2T>A (n.465+2T>A)
 gnomAD v4 COSMIC
1g.153819605C>ACA342534853GATAD2Bc.42+1G>T (n.42+1G>T)
c.465+1G>T (n.465+1G>T)
1g.153819605C>GCA342534854GATAD2Bc.42+1G>C (n.42+1G>C)
c.465+1G>C (n.465+1G>C)
1g.153819605C>TCA342534855GATAD2Bc.42+1G>A (n.42+1G>A)
c.465+1G>A (n.465+1G>A)
1g.153819606C>ACA342534856GATAD2Bc.42G>T (p.Lys14Asn)
c.465G>T (p.Lys155Asn)
 gnomAD v4
1g.153819606C>GCA342534857GATAD2Bc.42G>C (p.Lys14Asn)
c.465G>C (p.Lys155Asn)
1g.153819606C>TCA420836140GATAD2Bc.42G>A (p.Lys14=)
c.465G>A (p.Lys155=)
1g.153819607T>ACA342534859GATAD2Bc.41A>T (p.Lys14Met)
c.464A>T (p.Lys155Met)
1g.153819607T>CCA342534860GATAD2Bc.41A>G (p.Lys14Arg)
c.464A>G (p.Lys155Arg)
 gnomAD v4
1g.153819607T>GCA342534861GATAD2Bc.41A>C (p.Lys14Thr)
c.464A>C (p.Lys155Thr)
1g.153819608T>ACA342534864GATAD2Bc.40A>T (p.Lys14Ter)
c.463A>T (p.Lys155Ter)
1g.153819608T>CCA342534862GATAD2Bc.40A>G (p.Lys14Glu)
c.463A>G (p.Lys155Glu)
 dbSNP gnomAD v3 gnomAD v4
1g.153819608T>GCA342534863GATAD2Bc.40A>C (p.Lys14Gln)
c.463A>C (p.Lys155Gln)
1g.153819608T=CA2480603201GATAD2Bc.40A= (p.Lys14=)
c.463A= (p.Lys155=)
1g.153819609A>CCA342534865GATAD2Bc.39T>G (p.Phe13Leu)
c.462T>G (p.Phe154Leu)
1g.153819609A>GCA420836144GATAD2Bc.39T>C (p.Phe13=)
c.462T>C (p.Phe154=)
 gnomAD v4
1g.153819609A>TCA342534866GATAD2Bc.39T>A (p.Phe13Leu)
c.462T>A (p.Phe154Leu)
1g.153819610A>CCA342534867GATAD2Bc.38T>G (p.Phe13Cys)
c.461T>G (p.Phe154Cys)
1g.153819610A>GCA342534868GATAD2Bc.38T>C (p.Phe13Ser)
c.461T>C (p.Phe154Ser)
1g.153819610A>TCA342534869GATAD2Bc.38T>A (p.Phe13Tyr)
c.461T>A (p.Phe154Tyr)
1g.153819611A>CCA342534871GATAD2Bc.37T>G (p.Phe13Val)
c.460T>G (p.Phe154Val)
1g.153819611A>GCA342534872GATAD2Bc.37T>C (p.Phe13Leu)
c.460T>C (p.Phe154Leu)
 gnomAD v4
1g.153819611A>TCA342534873GATAD2Bc.37T>A (p.Phe13Ile)
c.460T>A (p.Phe154Ile)
1g.153819612C>ACA342534874GATAD2Bc.36G>T (p.Met12Ile)
c.459G>T (p.Met153Ile)
 gnomAD v4
1g.153819612C=CA2480603202GATAD2Bc.36G= (p.Met12=)
c.459G= (p.Met153=)
1g.153819612C>GCA342534875GATAD2Bc.36G>C (p.Met12Ile)
c.459G>C (p.Met153Ile)
 dbSNP
1g.153819612C>TCA1120865GATAD2Bc.36G>A (p.Met12Ile)
c.459G>A (p.Met153Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.153819613A=CA2480603203GATAD2Bc.35T= (p.Met12=)
c.458T= (p.Met153=)
1g.153819613A>CCA342534877GATAD2Bc.35T>G (p.Met12Arg)
c.458T>G (p.Met153Arg)
1g.153819613A>GCA30710932GATAD2Bc.35T>C (p.Met12Thr)
c.458T>C (p.Met153Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.153819613A>TCA342534876GATAD2Bc.35T>A (p.Met12Lys)
c.458T>A (p.Met153Lys)
1g.153819614T>ACA342534878GATAD2Bc.34A>T (p.Met12Leu)
c.457A>T (p.Met153Leu)
1g.153819614T>CCA1120866GATAD2Bc.34A>G (p.Met12Val)
c.457A>G (p.Met153Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.153819614T>GCA342534879GATAD2Bc.34A>C (p.Met12Leu)
c.457A>C (p.Met153Leu)
1g.153819614T=CA2480603204GATAD2Bc.34A= (p.Met12=)
c.457A= (p.Met153=)
1g.153819615C>ACA342534880GATAD2Bc.33G>T (p.Glu11Asp)
c.456G>T (p.Glu152Asp)
1g.153819615C>GCA342534881GATAD2Bc.33G>C (p.Glu11Asp)
c.456G>C (p.Glu152Asp)
1g.153819615C>TCA420836150GATAD2Bc.33G>A (p.Glu11=)
c.456G>A (p.Glu152=)
 gnomAD v4
1g.153819616T>ACA342534882GATAD2Bc.32A>T (p.Glu11Val)
c.455A>T (p.Glu152Val)
1g.153819616T>CCA342534883GATAD2Bc.32A>G (p.Glu11Gly)
c.455A>G (p.Glu152Gly)
 gnomAD v4
1g.153819616T>GCA342534884GATAD2Bc.32A>C (p.Glu11Ala)
c.455A>C (p.Glu152Ala)
1g.153819617C>ACA342534885GATAD2Bc.31G>T (p.Glu11Ter)
c.454G>T (p.Glu152Ter)
1g.153819617C=CA1141315029GATAD2Bc.31G= (p.Glu11=)
c.454G= (p.Glu152=)
1g.153819617C>GCA342534887GATAD2Bc.31G>C (p.Glu11Gln)
c.454G>C (p.Glu152Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.153819617C>TCA30710944GATAD2Bc.31G>A (p.Glu11Lys)
c.454G>A (p.Glu152Lys)
 dbSNP
1g.153819618T>ACA342534888GATAD2Bc.30A>T (p.Leu10Phe)
c.453A>T (p.Leu151Phe)
1g.153819618T>CCA420836154GATAD2Bc.30A>G (p.Leu10=)
c.453A>G (p.Leu151=)
1g.153819618T>GCA342534889GATAD2Bc.30A>C (p.Leu10Phe)
c.453A>C (p.Leu151Phe)
 gnomAD v4
1g.153819618dupCA2580061081GATAD2Bc.30dup (p.Glu11ArgfsTer4)
c.453dup (p.Glu152ArgfsTer4)
 ClinVar
1g.153819619A>CCA342534892GATAD2Bc.29T>G (p.Leu10Ter)
c.452T>G (p.Leu151Ter)
1g.153819619A>GCA342534891GATAD2Bc.29T>C (p.Leu10Ser)
c.452T>C (p.Leu151Ser)
1g.153819619A>TCA342534890GATAD2Bc.29T>A (p.Leu10Ter)
c.452T>A (p.Leu151Ter)
1g.153819620delCA2648092299GATAD2Bc.29del (p.Leu10Ter)
c.452del (p.Leu151Ter)
 gnomAD v4
1g.153819620A>CCA342534893GATAD2Bc.28T>G (p.Leu10Val)
c.451T>G (p.Leu151Val)
1g.153819620A>GCA420836156GATAD2Bc.28T>C (p.Leu10=)
c.451T>C (p.Leu151=)
1g.153819620A>TCA342534895GATAD2Bc.28T>A (p.Leu10Ile)
c.451T>A (p.Leu151Ile)
 gnomAD v4
1g.153819621G>ACA420836159GATAD2Bc.27C>T (p.Asn9=)
c.450C>T (p.Asn150=)
 ClinVar
1g.153819621G>CCA342534896GATAD2Bc.27C>G (p.Asn9Lys)
c.450C>G (p.Asn150Lys)
1g.153819621G>TCA342534898GATAD2Bc.27C>A (p.Asn9Lys)
c.450C>A (p.Asn150Lys)
1g.153819622T>ACA342534899GATAD2Bc.26A>T (p.Asn9Ile)
c.449A>T (p.Asn150Ile)
1g.153819622T>CCA342534900GATAD2Bc.26A>G (p.Asn9Ser)
c.449A>G (p.Asn150Ser)
1g.153819622T>GCA342534901GATAD2Bc.26A>C (p.Asn9Thr)
c.449A>C (p.Asn150Thr)
1g.153819623T>ACA342534902GATAD2Bc.25A>T (p.Asn9Tyr)
c.448A>T (p.Asn150Tyr)
1g.153819623T>CCA342534903GATAD2Bc.25A>G (p.Asn9Asp)
c.448A>G (p.Asn150Asp)
1g.153819623T>GCA342534906GATAD2Bc.25A>C (p.Asn9His)
c.448A>C (p.Asn150His)
1g.153819624G>ACA420836161GATAD2Bc.24C>T (p.Ala8=)
c.447C>T (p.Ala149=)
1g.153819624G>CCA420836162GATAD2Bc.24C>G (p.Ala8=)
c.447C>G (p.Ala149=)
1g.153819624G>TCA420836163GATAD2Bc.24C>A (p.Ala8=)
c.447C>A (p.Ala149=)
1g.153819625G>ACA342534908GATAD2Bc.23C>T (p.Ala8Val)
c.446C>T (p.Ala149Val)
 gnomAD v4
1g.153819625G>CCA342534910GATAD2Bc.23C>G (p.Ala8Gly)
c.446C>G (p.Ala149Gly)
1g.153819625G>TCA342534913GATAD2Bc.23C>A (p.Ala8Asp)
c.446C>A (p.Ala149Asp)
1g.153819626C>ACA342534917GATAD2Bc.22G>T (p.Ala8Ser)
c.445G>T (p.Ala149Ser)
1g.153819626C>GCA342534920GATAD2Bc.22G>C (p.Ala8Pro)
c.445G>C (p.Ala149Pro)
1g.153819626C>TCA342534916GATAD2Bc.22G>A (p.Ala8Thr)
c.445G>A (p.Ala149Thr)
 gnomAD v4
1g.153819627T>ACA420836164GATAD2Bc.21A>T (p.Ala7=)
c.444A>T (p.Ala148=)
1g.153819627T>CCA420836165GATAD2Bc.21A>G (p.Ala7=)
c.444A>G (p.Ala148=)
1g.153819627T>GCA420836166GATAD2Bc.21A>C (p.Ala7=)
c.444A>C (p.Ala148=)
1g.153819628G>ACA342534926GATAD2Bc.20C>T (p.Ala7Val)
c.443C>T (p.Ala148Val)
1g.153819628G>CCA342534922GATAD2Bc.20C>G (p.Ala7Gly)
c.443C>G (p.Ala148Gly)
1g.153819628G>TCA342534924GATAD2Bc.20C>A (p.Ala7Glu)
c.443C>A (p.Ala148Glu)
1g.153819629C>ACA342534928GATAD2Bc.19G>T (p.Ala7Ser)
c.442G>T (p.Ala148Ser)
1g.153819629C=CA1143994837GATAD2Bc.19G= (p.Ala7=)
c.442G= (p.Ala148=)
1g.153819629C>GCA342534930GATAD2Bc.19G>C (p.Ala7Pro)
c.442G>C (p.Ala148Pro)
1g.153819629C>TCA1120867GATAD2Bc.19G>A (p.Ala7Thr)
c.442G>A (p.Ala148Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.153819630T>ACA342534935GATAD2Bc.18A>T (p.Lys6Asn)
c.441A>T (p.Lys147Asn)
1g.153819630T>CCA420836170GATAD2Bc.18A>G (p.Lys6=)
c.441A>G (p.Lys147=)
1g.153819630T>GCA342534941GATAD2Bc.18A>C (p.Lys6Asn)
c.441A>C (p.Lys147Asn)
1g.153819631T>ACA342534945GATAD2Bc.17A>T (p.Lys6Ile)
c.440A>T (p.Lys147Ile)
1g.153819631T>CCA342534956GATAD2Bc.17A>G (p.Lys6Arg)
c.440A>G (p.Lys147Arg)
 dbSNP gnomAD v4
1g.153819631T>GCA342534953GATAD2Bc.17A>C (p.Lys6Thr)
c.440A>C (p.Lys147Thr)
1g.153819631T=CA2480603205GATAD2Bc.17A= (p.Lys6=)
c.440A= (p.Lys147=)
1g.153819632T>ACA342534968GATAD2Bc.16A>T (p.Lys6Ter)
c.439A>T (p.Lys147Ter)
1g.153819632T>CCA342534975GATAD2Bc.16A>G (p.Lys6Glu)
c.439A>G (p.Lys147Glu)
 gnomAD v4
1g.153819632T>GCA342534980GATAD2Bc.16A>C (p.Lys6Gln)
c.439A>C (p.Lys147Gln)
 gnomAD v4
1g.153819633G>ACA1120868GATAD2Bc.15C>T (p.Leu5=)
c.438C>T (p.Leu146=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.153819633G>CCA420836174GATAD2Bc.15C>G (p.Leu5=)
c.438C>G (p.Leu146=)
 COSMIC
1g.153819633G=CA2480603206GATAD2Bc.15C= (p.Leu5=)
c.438C= (p.Leu146=)
1g.153819633G>TCA420836172GATAD2Bc.15C>A (p.Leu5=)
c.438C>A (p.Leu146=)
1g.153819634A>CCA342534990GATAD2Bc.14T>G (p.Leu5Arg)
c.437T>G (p.Leu146Arg)
1g.153819634A>GCA342534992GATAD2Bc.14T>C (p.Leu5Pro)
c.437T>C (p.Leu146Pro)
1g.153819634A>TCA342534991GATAD2Bc.14T>A (p.Leu5His)
c.437T>A (p.Leu146His)
1g.153819635G>ACA342534993GATAD2Bc.13C>T (p.Leu5Phe)
c.436C>T (p.Leu146Phe)
1g.153819635G>CCA342534995GATAD2Bc.13C>G (p.Leu5Val)
c.436C>G (p.Leu146Val)
1g.153819635G>TCA342534999GATAD2Bc.13C>A (p.Leu5Ile)
c.436C>A (p.Leu146Ile)
1g.153819635_153819639delinsGTCTTCA2480603207GATAD2Bc.9_13delinsAAGAC (p.Glu3=)
c.432_436delinsAAGAC (p.Glu144=)
1g.153819636T>ACA342535003GATAD2Bc.12A>T (p.Arg4Ser)
c.435A>T (p.Arg145Ser)
1g.153819636T>CCA420836179GATAD2Bc.12A>G (p.Arg4=)
c.435A>G (p.Arg145=)
1g.153819636T>GCA342535004GATAD2Bc.12A>C (p.Arg4Ser)
c.435A>C (p.Arg145Ser)
 ClinVar
1g.153819640_153819643delCA16042318GATAD2Bc.9_12del (p.Glu3AspfsTer7)
c.432_435del (p.Glu144AspfsTer7)
c.432_435del (p.Glu144AspfsTer?)
 ClinVar dbSNP
1g.153819637C>ACA342535014GATAD2Bc.11G>T (p.Arg4Ile)
c.434G>T (p.Arg145Ile)
1g.153819637C>GCA342535017GATAD2Bc.11G>C (p.Arg4Thr)
c.434G>C (p.Arg145Thr)
1g.153819637C>TCA342535021GATAD2Bc.11G>A (p.Arg4Lys)
c.434G>A (p.Arg145Lys)
1g.153819638T>ACA342535025GATAD2Bc.10A>T (p.Arg4Ter)
c.433A>T (p.Arg145Ter)
1g.153819638T>CCA342535028GATAD2Bc.10A>G (p.Arg4Gly)
c.433A>G (p.Arg145Gly)
 gnomAD v4
1g.153819638T>GCA420836181GATAD2Bc.10A>C (p.Arg4=)
c.433A>C (p.Arg145=)
1g.153819639T>ACA342535035GATAD2Bc.9A>T (p.Glu3Asp)
c.432A>T (p.Glu144Asp)
1g.153819639T>CCA420836183GATAD2Bc.9A>G (p.Glu3=)
c.432A>G (p.Glu144=)
 gnomAD v4
1g.153819639T>GCA342535033GATAD2Bc.9A>C (p.Glu3Asp)
c.432A>C (p.Glu144Asp)
1g.153819640T>ACA342535041GATAD2Bc.8A>T (p.Glu3Val)
c.431A>T (p.Glu144Val)
1g.153819640T>CCA342535044GATAD2Bc.8A>G (p.Glu3Gly)
c.431A>G (p.Glu144Gly)
1g.153819640T>GCA342535047GATAD2Bc.8A>C (p.Glu3Ala)
c.431A>C (p.Glu144Ala)
1g.153819641C>ACA342535054GATAD2Bc.7G>T (p.Glu3Ter)
c.430G>T (p.Glu144Ter)
 COSMIC
1g.153819641C>GCA342535059GATAD2Bc.7G>C (p.Glu3Gln)
c.430G>C (p.Glu144Gln)
 COSMIC
1g.153819641C>TCA342535063GATAD2Bc.7G>A (p.Glu3Lys)
c.430G>A (p.Glu144Lys)
1g.153819642T>ACA342535072GATAD2Bc.6A>T (p.Glu2Asp)
c.429A>T (p.Glu143Asp)
1g.153819642T>CCA420836186GATAD2Bc.6A>G (p.Glu2=)
c.429A>G (p.Glu143=)
1g.153819642T>GCA342535069GATAD2Bc.6A>C (p.Glu2Asp)
c.429A>C (p.Glu143Asp)
1g.153819643T>ACA342535076GATAD2Bc.5A>T (p.Glu2Val)
c.428A>T (p.Glu143Val)
1g.153819643T>CCA342535091GATAD2Bc.5A>G (p.Glu2Gly)
c.428A>G (p.Glu143Gly)
1g.153819643T>GCA342535094GATAD2Bc.5A>C (p.Glu2Ala)
c.428A>C (p.Glu143Ala)

Number of alleles fetched